Arterial fibromuscular dysplasia associated with severe alpha 1-antitrypsin deficiency

Mayo Clin Proc. 1994 Nov;69(11):1040-3. doi: 10.1016/s0025-6196(12)61369-x.


Objective: To elucidate the putative arteriopathy associated with alpha 1-antitrypsin (alpha 1-AT) deficiency.

Design: We retrospectively studied the frequency of occurrence of fibromuscular dysplasia (FMD) in patients with alpha 1-AT deficiency in whom a postmortem examination had been done during a 10-year period at the Mayo Clinic.

Material and methods: The medical records of all patients in whom an autopsy was done at the Mayo Clinic between 1983 and 1992 were reviewed to identify all those with a diagnosis of alpha 1-AT deficiency or FMD.

Results: Arterial FMD was found in 2 of 6 patients with alpha 1-AT deficiency (33.3%; 95% confidence interval, 4.3 to 77.7%) in comparison with 23 of 6,690 patients without alpha 1-AT deficiency (0.3%; 95% confidence interval, 0.2 to 0.5%). In both patients with alpha 1-AT deficiency and FMD, the arterial media was thickened and composed of irregular arrays of muscular and connective tissue fibers in a background of mucoid ground substance.

Conclusion: These findings provide further evidence for an underlying arteriopathy in patients with alpha 1-AT deficiency and suggest that FMD may be a non-specific disorder.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Adult
  • Aged
  • Female
  • Fibromuscular Dysplasia* / etiology
  • Fibromuscular Dysplasia* / metabolism
  • Fibromuscular Dysplasia* / pathology
  • Humans
  • Iliac Artery* / pathology
  • Male
  • Middle Aged
  • Renal Artery* / pathology
  • Retrospective Studies
  • alpha 1-Antitrypsin Deficiency*